Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 20 | 4787830 | intron variant | -/AGGGACT | ins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
6 | 0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.200 | 17 | 43092277 | frameshift variant | -/T | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.040 | 0.750 | 4 | 2003 | 2015 | |||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.030 | 1.000 | 3 | 2010 | 2011 | ||||
|
5 | 0.827 | 0.160 | 17 | 43104197 | synonymous variant | A/C | snv | 8.0E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 1 | 17566321 | intron variant | A/C | snv | 0.93 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.807 | 0.280 | 6 | 104960124 | intron variant | A/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.160 | 12 | 913403 | stop gained | A/C | snv | 3.5E-02 | 2.1E-02 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | 19 | 49042615 | non coding transcript exon variant | A/C;G | snv | 0.46 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.050 | 1.000 | 5 | 2007 | 2015 | ||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.050 | 1.000 | 5 | 2011 | 2018 | ||||
|
16 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 0.030 | 1.000 | 3 | 2006 | 2010 | ||||
|
28 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.851 | 0.200 | 2 | 47403192 | start lost | A/C;G;T | snv | 5.1E-05; 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.200 | 17 | 43115730 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.851 | 0.200 | 3 | 46439310 | missense variant | A/C;G;T | snv | 0.39 | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
16 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.030 | 1.000 | 3 | 2006 | 2013 | ||||
|
4 | 0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 0.925 | 0.120 | 4 | 119028805 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.200 | 13 | 51974004 | missense variant | A/C;T | snv | 0.44; 2.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |